Massive Uterine Leiomyoma in a Phenotypic Male.

We present a case report of a 55-year-old male patient with congenital adrenal hyperplasia (CAH) and a large neoplastic mass in the abdomen. The patient presented with an abdominal mass and discomfort, along with a bilateral empty scrotum since birth. A diagnostic workup revealed the mass to be a uterine leiomyoma associated with CAH, a simple virilizing type. Treatment involved an exploratory laparotomy and excision of the mass, including the removal of the entire uterus. Complete removal of the mass and uterus was ensured. The patient's response to treatment was satisfactory. This case highlights how pre-operative and post-operative diagnoses can vary, along with the importance of early diagnosis of CAH and disorders of sexual differentiation (DSD), emphasizing the significance of unusual presentations and resultant complications, as they might go unnoticed. CAH in XX females may have unusual presentations, such as short stature and a male phenotype (Prader 5). The patient exhibited a normal pattern of male sexual function. This condition might go unnoticed, resulting in leiomyoma, adrenal tumors, prostate tumors if prostate tissue is present, and so on. Healthcare providers must watch out for such rare presentations.

Prevalence Of FLT-3 Mutation In Acute Myeloid Leukaemia.

BACKGROUND: FLT-3 mutation is a valuable prognostic marker in patients of AML being related with bad prognosis and poor clinical response to conventional chemotherapeutic agents. Frequency of FLT-3 mutation in AML varies from 25% to 35%. The objective of this study was to determine prevalence of FLT-3 mutation in patients with Acute Myeloid Leukaemia. METHODS: This observational cross-sectional Study was conducted in Department of Oncology, Jinnah Hospital Lahore from 1st October 2018 to 31st March 2019. Patients with acute myeloid leukaemia, aged 15-60 years, of both genders were included. After taking consent, demographic data was noted. Three ml of sample of blood was obtained from each patient and sent for detection of FLT-3 mutation. Data was analysed using SPSS version 20.0. Chi square test was applied, pvalue <0.05 significant. RESULTS: A total of 180 patients were enrolled in this study. The mean±SD age of patients was 34.72±14.3 years, among which 38.3% were female and 61.7% male. The mean±SD duration of disease was 3.39±2.8 months. The mean±SD haemoglobin level, TLC and platelet counts were 7.2±2.3 g/dl, 30,913±63,573 per cm and 58.6±52.3×103 per cm. The blast cell (%) count was 69.6±19.8. FLT-3 mutation was present in 18.9%. CONCLUSIONS: We conclude that FLT-3 mutation to be present in only a minority of patients with Acute Myeloid Leukaemia having no significant association with age, sex, haemoglobin, WBCs and blast counts.